Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
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Title
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Authors
Keywords
Autism Spectrum Disorder, Intellectual Disability, Intellectual Disability, Chromosomal Microarray Analysis, Nonsense Mediate mRNA Decay
Journal
HUMAN GENETICS
Volume 136, Issue 4, Pages 377-386
Publisher
Springer Nature
Online
2017-03-01
DOI
10.1007/s00439-017-1763-1
References
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Note: Only part of the references are listed.- Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
- (2016) V. Oikonomakis et al. CLINICAL GENETICS
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- (2016) Nuria C. Bramswig et al. HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
- (2016) Stefan H Lelieveld et al. NATURE NEUROSCIENCE
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- (2014) Dalila Pinto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The E3 Ubiquitin Ligase Thyroid Hormone Receptor-interacting Protein 12 Targets Pancreas Transcription Factor 1a for Proteasomal Degradation
- (2014) Naïma Hanoun et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk
- (2014) B. J. O'Roak et al. Nature Communications
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- (2013) Joanna Wiszniewska et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Differential Effects on ARF Stability by Normal versus Oncogenic Levels of c-Myc Expression
- (2013) Delin Chen et al. MOLECULAR CELL
- Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer
- (2013) Georgia Velimezi et al. NATURE CELL BIOLOGY
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- (2012) Thorkell Gudjonsson et al. CELL
- HUWE1 and TRIP12 Collaborate in Degradation of Ubiquitin-Fusion Proteins and Misframed Ubiquitin
- (2012) Esben G. Poulsen et al. PLoS One
- The E3 Ubiquitin Ligase Activity of Trip12 Is Essential for Mouse Embryogenesis
- (2011) Masashi Kajiro et al. PLoS One
- Detection of clinically relevant exonic copy-number changes by array CGH
- (2010) Philip M. Boone et al. HUMAN MUTATION
- Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses
- (2010) Delin Chen et al. NATURE
- Physiological functions of the HECT family of ubiquitin ligases
- (2009) Daniela Rotin et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- TRIP12 functions as an E3 ubiquitin ligase of APP-BP1
- (2008) Yoon Park et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
- (2008) Martine Doco-Fenzy et al. European Journal of Medical Genetics
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